Canonical Allele Identifier: CA308573552
Gene: CEACAM5 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41717688G>A , CM000681.2:g.41717688G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000221992.11:c.1192G>A MANE Select ENSP00000221992.5:p.Glu398Lys
ENST00000221992.10:c.1192G>A ENSP00000221992.5:p.Glu398Lys
ENST00000398599.8:c.1189G>A ENSP00000381600.4:p.Glu397Lys
ENST00000405816.5:c.1192G>A ENSP00000385072.1:p.Glu398Lys
ENST00000435837.2:c.64+8893G>A ENSP00000469926.1:n.64+8893G>A
ENST00000595403.1:c.325-2242G>A
ENST00000598976.1:c.424+7649G>A ENSP00000469421.1:n.424+7649G>A
ENST00000615021.4:c.658G>A ENSP00000482157.1:p.Glu220Lys
ENST00000616453.1:c.613-2430G>A ENSP00000480800.1:n.613-2430G>A
ENST00000617332.4:c.1192G>A ENSP00000482303.1:p.Glu398Lys
NM_001291484.1:c.1192G>A NP_001278413.1:p.Glu398Lys
NM_001291484.2:c.1192G>A NP_001278413.1:p.Glu398Lys
NM_001308398.1:c.1189G>A NP_001295327.1:p.Glu397Lys
NM_004363.4:c.1192G>A NP_004354.3:p.Glu398Lys
NM_004363.5:c.1192G>A NP_004354.3:p.Glu398Lys
XM_005258413.3:c.1192G>A XP_005258470.2:p.Glu398Lys
XM_011526322.1:c.704-440G>A XP_011524624.1:n.704-440G>A
XM_011526322.2:c.704-440G>A XP_011524624.1:n.704-440G>A
XM_017026145.2:c.1189G>A XP_016881634.1:p.Glu397Lys
XM_017026146.2:c.937G>A XP_016881635.1:p.Glu313Lys
NM_001291484.3:c.1192G>A NP_001278413.1:p.Glu398Lys
NM_001308398.2:c.1189G>A NP_001295327.1:p.Glu397Lys
NM_004363.6:c.1192G>A MANE Select NP_004354.3:p.Glu398Lys